Article
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2021
Charnay Théo, Blanck Véronique, Cerino Mathieu, Bartoli Marc, Riccardi Florence, Bonello-Palot Nathalie, Pécheux Christophe, Nguyen Karine, Lévy Nicolas, Gorokhova Svetlana, Krahn Martin
Abstract excerpt
PURPOSE: Recent evolution of sequencing technologies and the development of international standards in variant interpretation have profoundly changed the diagnostic approaches in clinical genetics. As a consequence, many variants that were initially claimed to be disease-causing can be now reclassified as benign or uncertain in light of the new data available. Unfortunately, the misclassified variants are still...
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